Kennedy병의 임상적, 전기 진단적 특징

Abstract

Background : Kennedy disease is a X-linked recessive disease characterized by bulbar symptoms, proximal muscle weakness, and gynecomastia. Methods : We analyzed clinical symptoms and performed electrodiagnostic studies on 6 patients. Results : We found following features: 1) proximal muscle weakness 2) bulbar symptoms, as dysarthria, facial and tongue atrophy 3) hyporeflexia or areflexia 4) fasciculations, predominantly on face, and proximal upper extremities 5) decreased sensory nerve action potentials(SNAPs) 6) chronic neurogenic changes in needle EMG. Conclusions : Kennedy disease is characterized by degenerative process of anterior horn cell and dorsal root ganglion without upper motor neuron dysfunction. Increased triple uncleotide CAG repeat(>38) in androgen receptor gene of Xp21 will confirm early stage of this disease.